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that manifest as intermediate phenotypes that do not meet standard disease definitions in spite of the presence of myocardial disease on cardiac imaging or tissue analysis. In a previous ESC statement, this phenomenon inspired the creation of a new disease category, hypokinetic non-dilated cardiomyopathy.9 In this guideline, we propose replacement of this term with non-dilated left ventricular cardiomyopathy (NDLVC), which can be further characterized by the presence or absence of systolic dysfunction (regional or global). Isolated LV dysfunction (regional or global) without scarring should also be considered under this diagnostic category. The NDLVC phenotype is defined as the presence of non-ischaemic LV scarring or fatty replacement regardless of the presence of global or regional wall motion abnormalities (RWMAs), or isolated global LV hypokinesia without scarring.

The NDLVC phenotype will include individuals that up until now may have variably been described as having DCM (but without LV dilatation), arrhythmogenic left ventricular cardiomyopathy (ALVC), leftdominant ARVC, or arrhythmogenic DCM (but often without fulfilling diagnostic criteria for ARVC) (Figure 3). The simple worked example (Figure 4) shows how the identification of an NDLVC phenotype should trigger a multiparametric approach that leads to a specific aetiological diagnosis, with implications for clinical treatment.

DSP LMNA PLN BAG3

FLNC LMNA TTN BAG3 (no LGE)

RBM20 LMNA (no LGE) Myocarditis DMD

Figure 3 Examples of non-dilated left ventricular cardiomyopathy phenotypes and their aetiological correlates. BAG3, BAG cochaperone-3; DMD, Duchenne muscular dystrophy; DSP, desmoplakin; FLNC, filamin C; LGE, late gadolinium enhancement; LMNA, lamin A/C; NDLVC, non-dilated left ventricular cardiomyopathy; PLN, phospholamban; RBM20, RNA binding motif protein 20; TTN, titin. Distribution of LGE (arrowheads) in NDLVC and aetiological correlates. Desmoplakin (DSP), filamin C (FLNC) and phospholamban (PLN) genotypes show a characteristic subepicardial, ring-like LGE pattern, whereas titin (TTN), BAG3 (BAG3), lamin A/C (LMNA), DMD, RBM20 genotypes and myocarditis are more heterogeneous, but with overall less scar (sometimes without) and lower left ventricular ejection fraction.

ESC Guidelines                                                                                                                                                                                          3515

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